About InterVar Forecast Results

[yinbinqiu]

Hello, for a certain mutation, the predicted result of InterVar is Benign, but PVS1=1 and BA1=1, how to judge this kind of site？

[quanliustc]

Stand Alone BA1 is very strong as Allele frequency is >5% in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium， so will give benign， PVS1 need plus PS or PM or more PP to get pathogenic